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Fgd1 FYVE, RhoGEF and PH domain containing 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 363460, updated on 13-Apr-2024

Summary

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Symbol
Fgd1provided by RGD
Full Name
FYVE, RhoGEF and PH domain containing 1provided by RGD
Primary source
RGD:1565188
See related
Ensembl:ENSRNOG00000038970 AllianceGenome:RGD:1565188
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in several processes, including filopodium assembly; regulation of GTPase activity; and regulation of cell shape. Predicted to act upstream of or within cytoskeleton organization. Predicted to be located in Golgi apparatus; lamellipodium; and ruffle. Human ortholog(s) of this gene implicated in X-linked Aarskog syndrome and non-syndromic X-linked intellectual disability. Orthologous to human FGD1 (FYVE, RhoGEF and PH domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Brain (RPKM 82.4), Heart (RPKM 68.6) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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Location:
Xq12
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (23466791..23509773)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (20023746..20066734)
106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (20100942..20143871)

Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene large ribosomal subunit protein eL21-like Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1, pseudogene 13 Neighboring gene serine and arginine rich splicing factor 5, pseudogene 1 Neighboring gene TSR2, ribosome maturation factor Neighboring gene ribosomal protein S12, pseudogene Neighboring gene WNK lysine deficient protein kinase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. Al-Semari A, et al. Clin Dysmorphol, 2013 Jan. PMID 23211637
  2. Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Orrico A, et al. Am J Med Genet A, 2010 Feb. PMID 20082460
  3. Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer. Ayala I, et al. Cancer Res, 2009 Feb 1. PMID 19141649
  4. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Shalev SA, et al. Am J Med Genet A, 2006 Jan 15. PMID 16353258
  5. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Lebel RR, et al. Clin Genet, 2002 Feb. PMID 11940089

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in actin cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
involved_in biological_process ND
No biological Data available
more info
  
acts_upstream_of_or_within cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
involved_in filopodium assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cell shape ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in lamellipodium ISO
Inferred from Sequence Orthology
more info
  
located_in ruffle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
FYVE, RhoGEF and PH domain-containing protein 1
Names
FYVE, RhoGEF and PH domain-containing protein 1-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001037546.1 → NP_001032635.1  FYVE, RhoGEF and PH domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001032635.1

    Status: PROVISIONAL

    Source sequence(s)
    BC110051
    UniProtKB/TrEMBL
    A0A8I6AC87, A6KL97, Q2YDU5
    Related
    ENSRNOP00000089219.1, ENSRNOT00000093505.2
    Conserved Domains (6) summary
    cd13236
    Location:647 → 752
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd01219
    Location:423 → 530
    PH1_FGD1; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia protein 1, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:557 → 621
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:423 → 520
    PH; PH domain
    pfam00621
    Location:209 → 392
    RhoGEF; RhoGEF domain
    pfam02354
    Location:75 → 163
    Latrophilin; Latrophilin Cytoplasmic C-terminal region

  2. NM_001414732.1 → NP_001401661.1  FYVE, RhoGEF and PH domain-containing protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000021
    UniProtKB/TrEMBL
    A0A8I5ZMG2
    Related
    ENSRNOP00000079256.1, ENSRNOT00000093576.2

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086039.1 Reference GRCr8

    Range
    23466791..23509773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version

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